Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
WT limb blood syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Lack of ossification of vomer |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
CK syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Lack of ossification of mandible |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Congenital hypoplastic anemia |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Lymphedema hypoparathyroidism syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
Lack of ossification of premaxilla |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Multiple lentigines syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Lack of ossification of pubis |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Revesz syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
6 |
Cervical spinal hydromeningocele |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
4 |
Congenital vaginal enterocele |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Congenital vaginal enterocele |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Craniosynostosis and dental anomalies syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Craniosynostosis and dental anomalies syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Autosomal recessive frontotemporal pachygyria (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Intellectual disability, facial dysmorphism, hand anomalies syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Intellectual disability, facial dysmorphism, hand anomalies syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Roifman syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Roifman syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Lack of ossification of supraoccipital bone (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
Delayed epiphyseal closure |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Discontinuity between mitral valve and pulmonary valve (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Quadricuspid pulmonary valve |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Congenital abnormality of arterial valves |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Premature epiphyseal closure |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Lack of ossification of tympanic anulus |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
Right-left orientation of bicuspid pulmonary valve (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Bone turnover rate disorder |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Bone turnover rate decreased (finding) |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Congenital fusion of pulmonary valve segment |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Increased bone formation |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Anterior-posterior orientation of bicuspid pulmonary valve (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Oligodontia and cancer predisposition syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Oligodontia and cancer predisposition syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
5 |
Bicuspid pulmonary valve |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Unicuspid aortic valve (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Commissural fusion of pulmonary valve |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Bone resorption disorder |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Sacral agenesis |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Sacral agenesis |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
9q31.1q31.3 microdeletion syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Split hand, split foot malformation with sensorineural hearing loss syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
Split hand, split foot malformation with sensorineural hearing loss syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
5 |
Lack of ossification of basisphenoid bone |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
Decreased maintenance of bone matrix |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Acommissural unicuspid aortic valve (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Bone turnover rate increased |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Lack of ossification of lacrimal bone |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
épiphyse soudée |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital abnormality of cardiac ventricle |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Bone turnover rate absent |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Commissural fusion of aortic valve |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Late closure of anterior fontanel |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Progression of fetal right ventricular outflow tract obstruction |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Incomplete ossification of ilium |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Decreased osteoblast function |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Progression of fetal left ventricular outflow tract obstruction (disorder) |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Accessory tissue on pulmonary valve cusp |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Incomplete ossification of interparietal bone |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Lack of bone formation |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Lack of ossification of premaxilla |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
Quadricuspid aortic valve |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Unicommissural unicuspid aortic valve (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Osteoid formation disorder |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Lack of ossification of presphenoid bone |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
Epiphysis formation disorder |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Early fontanel closure |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Congenital hypoplasia of ulna and split foot syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
Functional bone disorder |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Reduced ossification |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Incomplete ossification |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Late fontanel closure |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
13q12.3 microdeletion syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
14q24.1q24.3 microdeletion syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Epidermolysis bullosa simplex due to exophilin 5 deficiency (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Epidermolysis bullosa simplex due to BP230 deficiency (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Hypoplastic left heart syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |